Allele Registry

Canonical Allele Identifier: PA645510455

Gene: FBN1 HGNC NCBI

ClinVar Allele:

433557

ClinVar RCV:

RCV000506354

RCV001046063

RCV001178175

RCV001591155

RCV002481637

RCV004003557

ClinVar Variation:

439707

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ala2063Thr	CA392337244 NM_000138.5:c.6187G>A